Features include always present findings: Encephalopathy, Axial hypotonia, Feeding difficulties, and Decreased activity of mitochondrial complex I and others. 14 total HPO annotations.

NDUFV2 encodes NADH:ubiquinone oxidoreductase core subunit V2 (249 aa). Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (Probable). Highest expression in Muscle Skeletal (143.4 TPM) and Cells EBV-transformed lymphocytes (138.1 TPM).

Mitochondrial complex I deficiency, nuclear type 7 is associated with mutations in the NDUFV2 gene on chromosome 18.

NDUFV2 is classified as a druggable target (Enzyme category) with score 0.3.

Genetic testing for NDUFV2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features.

No clinical trials have been registered for mitochondrial complex I deficiency, nuclear type 7.

3 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 7. Research spans Other (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]

• Le HT (2025). [PMID: 39756584](https://pubmed.ncbi.nlm.nih.gov/39756584/). *Mol Cells*. [Basic Science / Preclinical]

• Marshall AE (2024). [PMID: 38477541](https://pubmed.ncbi.nlm.nih.gov/38477541/). *Am J Med Genet A*. [Case Report / Case Series]